Expanding the differential diagnosis of fetal hydrops: An unusual prenatal presentation of megalencephaly-capillary malformation syndrome

Daniel T. Swarr, Nahla Khalek, James Treat, Margaret A. Horton, Ghayda M. Mirzaa, Jean Baptiste Riviere, William B. Dobyns, Elaine H. Zackai

Research output: Contribution to journalLetterpeer-review

7 Scopus citations

Abstract

What's already known about this topic? Megalencephaly-capillary malformation (MCAP) syndrome is a rare disorder characterized by growth dysregulation, central nervous system and vascular anomalies, and distal limb malformations. Disruption of PI3K-AKT signaling has recently been implicated as the cause of MCAP. What does this study add? This study reports a case of MCAP with bilateral pleural effusions and fetal hydrops managed with thoracoamniotic shunt placement, highlights characteristic features of MCAP that may facilitate prenatal diagnosis, and discusses the possibility of prenatal molecular diagnosis in future cases.

Original languageEnglish (US)
Pages (from-to)1010-1012
Number of pages3
JournalPrenatal Diagnosis
Volume33
Issue number10
DOIs
StatePublished - Oct 2013
Externally publishedYes

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